text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
However, no association was found for GSTP1 polymorphism The smoking modified the association of GSTM1 and GSTT1 null genotypes with the risk of gastric cancer. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
97,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
61,
7
]
} |
Glutathione-S-transferase (GSTM1, GSTT1) null phenotypes and risk of lung cancer in a Korean population. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
34,
5
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
69,
11
]
} |
Twelve (60%) of the 20 patients with paired germline and lymphoma TNFAIP3 sequence data had functional abnormalities of A20: 6 in germline DNA, 5 in lymphoma DNA, and 1 in both. | genomic_alterations | {
"id": 7128,
"name": "TNFAIP3",
"pos": [
66,
7
]
} | {
"id": "C1332206",
"name": "Adult Lymphoma",
"pos": [
57,
8
]
} |
Altogether, we suggest that green tea polyphenols could serve as reagents for treatment or prevention of leukemia harboring FLT3 mutations. | genomic_alterations | {
"id": 2322,
"name": "FLT3",
"pos": [
124,
4
]
} | {
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
105,
8
]
} |
Expression, regulation and clinical significance of bone morphogenetic protein 6 in esophageal squamous-cell carcinoma. | NA | {
"id": 654,
"name": "BMP6",
"pos": [
52,
28
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
84,
10
]
} |
The obtained cells expressed high levels of CD25, CTLA-4, and Foxp3, and they were capable of suppressing in vitro proliferation of T cells from myasthenic rats in response to acetylcholine receptor, the major autoantigen in myasthenia. | NA | {
"id": 50943,
"name": "FOXP3",
"pos": [
62,
5
]
} | {
"id": "C0947912",
"name": "Myasthenias",
"pos": [
225,
10
]
} |
At later times after ischemia, GPR17 immuno-labeling appeared on microglia/macrophages infiltrating the lesioned area to indicate that GPR17 may also acts as a player in the remodeling of brain circuitries by microglia. | NA | {
"id": 2840,
"name": "GPR17",
"pos": [
31,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
21,
8
]
} |
We investigated the combined effects of vismodegib and ponatinib, a pan-ABL1 kinase inhibitor, in nonobese diabetic/severe-combined immunodeficiency (NOD/SCID) repopulating T315I BCR-ABL1-positive cells in vitro and in vivo. | NA | {
"id": 25,
"name": "ABL1",
"pos": [
72,
4
]
} | {
"id": "C0494261",
"name": "Combined immunodeficiency",
"pos": [
123,
25
]
} |
NRAS mutation was detected in 2 of 10 CMMoL patients studied and in none of the 31 patients with other types of myelodysplastic syndrome. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
0,
4
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
112,
24
]
} |
Here we showed that a bioactive lipid, lysophophatidic acid (LPA), up-regulated the expression of human telomerase reverse transcriptase (hTERT) and telomerase activity in serous ovarian adenocarcinoma cell lines SKOV3, A2780, and HEY, but not in OCC1, a clear cell ovarian cancer cell line. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
104,
32
]
} | {
"id": "C0948216",
"name": "Ovarian adenocarcinoma",
"pos": [
179,
22
]
} |
In gastric cancer cells, PRL-3 upregulated miR-210 expression in a HIF-1α-dependent fashion under normoxia and hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
67,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
111,
7
]
} |
MT-1 protein in women of reproductive age was significantly higher in breast cancer than in fibroadenoma in this study. | biomarker | {
"id": 4500,
"name": "MT1L",
"pos": [
0,
4
]
} | {
"id": "C0206650",
"name": "Fibroadenoma",
"pos": [
92,
12
]
} |
We identify Cdk5 as the Noxa kinase and show that Cdk5 knockdown or expression of a Noxa S(13) to A mutant increases sensitivity to glucose starvation, confirming that the phosphorylation is protective. | NA | {
"id": 5366,
"name": "PMAIP1",
"pos": [
84,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
140,
10
]
} |
NOX2(-/-) mice on the CDAA or WD had no significant change in Sirt1, Timp3, and TACE activity or the fibrosis markers assessed. | NA | {
"id": 6868,
"name": "ADAM17",
"pos": [
80,
4
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
101,
8
]
} |
Moreover, blockade of Gal-9/TIM-3 pathway by TIM-3 Fc protein increased Tfh cells proportion, IL-21 mRNA and protein expression within purified CD4<sup>+</sup> T cells, while activation of Gal-9/TIM-3 signaling by Gal-9 stimulation decreased IL-21 production in both patients with chronic HCV infection and healthy individuals. | biomarker | {
"id": 3965,
"name": "LGALS9",
"pos": [
226,
5
]
} | {
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
301,
13
]
} |
PARP cleavage was also enhanced in PBMCs from MCI and AD individuals and this finding was associated with a higher level of spontaneous apoptosis. | biomarker | {
"id": 142,
"name": "PARP1",
"pos": [
0,
4
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
46,
3
]
} |
Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
135,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
80,
13
]
} |
Genetic polymorphisms of alcohol and aldehyde dehydrogenases and glutathione S-transferase M1 and drinking, smoking, and diet in Japanese men with esophageal squamous cell carcinoma. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
65,
28
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
108,
7
]
} |
However, the role of DJ-1 in invasion and metastasis of nasopharyngeal carcinoma (NPC) and its relation to MIF expression in NPC are not fully understood. | NA | {
"id": 11315,
"name": "PARK7",
"pos": [
21,
4
]
} | {
"id": "C2931822",
"name": "Nasopharyngeal carcinoma",
"pos": [
56,
24
]
} |
We studied the effects of the NAMPT polymorphisms T>C (rs1319501) and A>G (rs3801266), and the haplotypes formed by them on visfatin/NAMPT levels and whether these genetic markers are associated with gestational hypertension (GH) and PE. | NA | {
"id": 10135,
"name": "NAMPT",
"pos": [
133,
5
]
} | {
"id": "C0852036",
"name": "Pregnancy associated hypertension",
"pos": [
200,
24
]
} |
Putting this in the context of the hub idea, we propose that modulation of inflammation by ATF3 is a unifying theme for the potential involvement of ATF3 in various diseases. | NA | {
"id": 467,
"name": "ATF3",
"pos": [
149,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
75,
12
]
} |
The HNF1A G319S carrier status was associated with incident type 2 diabetes (odds ratio [OR] 3.78 [95% CI 2.13-6.69]) after adjustment for age, sex, hypertension, triglyceride, HDL cholesterol, and waist circumference. | genomic_alterations | {
"id": 6927,
"name": "HNF1A",
"pos": [
4,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
60,
15
]
} |
Because pituitary hormones such as growth hormone (GH), ACTH, and thyroid-stimulating hormone affect body weight and composition, appetite, insulin sensitivity, and lipoprotein metabolism, we investigated whether MCH exerts direct effects on the human pituitary to regulate energy balance using dispersed human fetal pituitaries (21-22 wk gestation) and cultured GH-secreting adenomas. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
56,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
140,
19
]
} |
Importantly, compared to patients with biallelic mutations, patients with wild type SBDS had more severe hematological disease but milder pancreatic disease. | biomarker | {
"id": 51119,
"name": "SBDS",
"pos": [
84,
4
]
} | {
"id": "C0018939",
"name": "Hematological Disease",
"pos": [
105,
21
]
} |
CETP activity during pregnancy identified women at risk for later diabetes development. | genomic_alterations | {
"id": 1071,
"name": "CETP",
"pos": [
0,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
66,
8
]
} |
SSF caused by PVL-positive S. aureus strains were associated with more-exacerbated skin manifestations and a greater systemic inflammatory response, compared with those cases caused by PVL-negative S. aureus. | NA | {
"id": 56342,
"name": "PPAN",
"pos": [
0,
3
]
} | {
"id": "C0037285",
"name": "Skin Manifestations",
"pos": [
83,
19
]
} |
Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity? | NA | {
"id": 348,
"name": "APOE",
"pos": [
4,
4
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
80,
6
]
} |
It has been reported that the p53 Arg homozygous genotype could be a potential genetic risk factor for cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
30,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
103,
6
]
} |
This may be due to upregulation of VEGF under hypoxia, as treatment of cells with the VEGF receptor antagonist CPO-P11 attenuated hypoxia-induced nestin expression. | NA | {
"id": 130749,
"name": "CPO",
"pos": [
111,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
130,
7
]
} |
The purpose of this study was to discover whether S100A2 expression is associated with late cervical metastasis in patients with stage I and II invasive squamous cell carcinoma of the oral cavity. | NA | {
"id": 6273,
"name": "S100A2",
"pos": [
50,
6
]
} | {
"id": "C0585362",
"name": "Squamous cell carcinoma of mouth",
"pos": [
153,
42
]
} |
San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. | genomic_alterations | {
"id": 9985,
"name": "REC8",
"pos": [
74,
4
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
190,
25
]
} |
p53 mutational status was an important determinant of responsiveness to platinum-based chemotherapy in all patients with a residual tumor of <2 cm in diameter after initial surgery (wild-type versus mutant, P = 0.029). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
0,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
123,
14
]
} |
Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
28,
3
]
} | {
"id": "C0152427",
"name": "Polydactyly",
"pos": [
138,
11
]
} |
Pin1 overexpression promotes ligand-independent and tamoxifen-inducible activity of ERα and growth of tamoxifen-resistant breast cancer cells. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
0,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
122,
13
]
} |
Original pathologic materials from individuals with a PPB, PPB-associated tumor and/or a DICER1 mutation were centrally reviewed by the International PPB Registry. | genomic_alterations | {
"id": 23405,
"name": "DICER1",
"pos": [
89,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
74,
5
]
} |
In 82 coronary artery disease (CAD) patients and healthy controls (CTL), expressions of angiotensin I-converting enzyme (ACE), angiotensin AT1 receptor and DC-specific ICAM-3-grabbing nonintegrin (DC-SIGN) on DCs were measured by western-blot: CAD patients had an increased expression of ACE, AT1 receptor and DC-SIGN compared to controls especially in acute myocardial infarction (AMI). | NA | {
"id": 30835,
"name": "CD209",
"pos": [
310,
7
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
6,
23
]
} |
The RAS gene family members, H-RAS, K-RAS, and N-RAS, are frequently mutated in human cancer. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
36,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
86,
6
]
} |
Therefore, this study aims to determine the association between IL28B polymorphisms and the risk of HCC in individuals with HBV or HCV infection.PubMed, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) databases were used to identify studies meeting the selection requirements using the terms "interleukin 28B", "IFN-lambda-3", "IFNL3", "single nucleotide polymorphisms", "SNPs", "hepatocellular carcinoma", "HCC", "liver cancer".A total of 24 eligible original studies (1 cohort study and 23 case-control studies) involved 20238 individuals (HCC group = 8725 vs control group = 11,513) were included. | genomic_alterations | {
"id": 282617,
"name": "IFNL3",
"pos": [
64,
5
]
} | {
"id": "C0345904",
"name": "Malignant neoplasm of liver",
"pos": [
428,
12
]
} |
EGF also inhibits the dioxin-dependent induction of certain parameters in keratinocytes that are reflective of dioxin-induced chloracne. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
0,
3
]
} | {
"id": "C0263454",
"name": "Chloracne",
"pos": [
126,
9
]
} |
Whereas SLC6A4 and TPH1 mRNA expression levels did not differ between suicides and controls, TPH2 levels were found significantly increased (P = 0.003) in suicide completers. | NA | {
"id": 6532,
"name": "SLC6A4",
"pos": [
8,
6
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
155,
7
]
} |
These changes in host response to the viral infection were accompanied by an increase in viral replication in lungs of MSP mice. | biomarker | {
"id": 89782,
"name": "LMLN",
"pos": [
119,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
38,
15
]
} |
In addition, we show that a phosphomimetic mutant of RIP3, S204D, led to programmed necrosis that was refractory to RIP1 siRNA and insensitive to necrostatin-1 inhibition. | NA | {
"id": 23164,
"name": "MPRIP",
"pos": [
53,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
84,
8
]
} |
In addition, several novel loci including CACNA2D1, PDE4D, NALCN, and CACNA2D3 were also identified to be associated with SCZ in our Han Chinese sample. | genomic_alterations | {
"id": 259232,
"name": "NALCN",
"pos": [
59,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
122,
3
]
} |
However, the roles of other genes, such as CSF3 (colony stimulating factor 3 receptor), CD40, TNFSF14 (tumor necrosis factor receptor superfamily, member 14), IFNB1 (interferon-β1), TIRAP (toll-interleukin 1 receptor domain containing adaptor protein), IL2RA (interleukin 2 receptor α), ETS1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1), GADD45B (growth arrest and DNA-damage-inducible 45 β), BIRC3 (baculoviral IAP repeat containing 3), VAV1 (vav 1 guanine nucleotide exchange factor), COL5A1 (collagen, type V, α1), and C3 (complement component 3), have not been investigated thoroughly in the process of periodontitis. | NA | {
"id": 8764,
"name": "TNFRSF14",
"pos": [
103,
53
]
} | {
"id": "C0031099",
"name": "Periodontitis",
"pos": [
622,
13
]
} |
Mice lacking the Tak1 gene in brain endothelial cells showed a blunted fever response and reduced lethargy upon intravenous injection of the endogenous pyrogen IL-1β. | NA | {
"id": 6885,
"name": "MAP3K7",
"pos": [
17,
4
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
71,
5
]
} |
Patients and asymptomatic individuals with this factor were found to have significant hypercoagulation, as evidenced by lower activated protein C-resistance index, higher factor VIII (von Willebrand's factor) activity, elevated von Willebrand's factor antigen levels, and enhanced intravascular platelet activation. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
184,
23
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
13,
12
]
} |
The cutaneous abnormalities of APOC1(+/+) mice were not affected after transplantation to wild-type mice, indicating that locally produced apoC-I prevents lipid entry into the skin. | NA | {
"id": 341,
"name": "APOC1",
"pos": [
31,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
14,
13
]
} |
The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). | NA | {
"id": 667,
"name": "DST",
"pos": [
45,
3
]
} | {
"id": "C0037198",
"name": "Sinus Thrombosis, Intracranial",
"pos": [
27,
16
]
} |
Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia. | NA | {
"id": 3400,
"name": "ID4",
"pos": [
0,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
87,
28
]
} |
In this study, we investigated whether whole brain atrophy and apolipoprotein E (APOE) genotype are associated with the rate of functional decline in MCI. | NA | {
"id": 345643,
"name": "MCIDAS",
"pos": [
150,
3
]
} | {
"id": "C4551584",
"name": "Brain atrophy",
"pos": [
45,
13
]
} |
We carried out haplotype analysis in the families, selected candidate genes from the critical interval for ANFH on 12q13, and sequenced the promoter and exonic regions of the type II collagen gene (COL2A1) from persons with inherited and sporadic forms of ANFH. | NA | {
"id": 1280,
"name": "COL2A1",
"pos": [
198,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
238,
8
]
} |
However, reduced KLK13 expression is correlated with disease aggressiveness, including higher tumor stage and grade, and high-risk TaT1 tumors according to the EORTC stratification. | NA | {
"id": 117247,
"name": "SLC16A10",
"pos": [
131,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
61,
14
]
} |
Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
102,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
234,
23
]
} |
Neither GLP-1 receptor agonists nor DPP-4 inhibitors were associated with a significantly elevated or reduced risk of pancreatic cancer or for the totality of all malignant neoplasms. | genomic_alterations | {
"id": 1803,
"name": "DPP4",
"pos": [
36,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
163,
19
]
} |
Rac3 Regulates Cell Invasion, Migration and EMT in Lung Adenocarcinoma through p38 MAPK Pathway. | biomarker | {
"id": 7965,
"name": "AIMP2",
"pos": [
79,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
51,
19
]
} |
deficiencies or dysfunctions of antithrombin III, protein C, protein S, plasminogen and fibrinogen. | NA | {
"id": 5627,
"name": "PROS1",
"pos": [
61,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
88,
10
]
} |
The frequency of proteinuria and the percentage of proliferative retinopathy among the patients with retinopathy was higher in those with active ALDH2 and superactive ADH2. | NA | {
"id": 125,
"name": "ADH1B",
"pos": [
167,
4
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
17,
11
]
} |
Within strata of APOE genotype, the presence of severe CAA was associated with increased frequency of VLs (eg, within APOE4/4 homozygotes, VLs were present within 47% of the cases of severe CAA vs 9.5% of the cases of mild or absent CAA; P=.01). | NA | {
"id": 348,
"name": "APOE",
"pos": [
17,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
218,
4
]
} |
Genetic variants in the angiotensin I-converting-enzyme (ACE) and angiotensin II receptor (AT1) gene and clinical outcome in depression. | biomarker | {
"id": 9197,
"name": "SLC33A1",
"pos": [
91,
3
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
125,
10
]
} |
In conclusion, CD133-positive Hep-2 cells exhibited a radioresistant phenotype that was enhanced with hypoxia. | NA | {
"id": 8842,
"name": "PROM1",
"pos": [
15,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
102,
7
]
} |
Among the 41 cases with primary colon tumor and lymph node metastases, decreased expression of IDO was documented in the lymph node metastases. | NA | {
"id": 3620,
"name": "IDO1",
"pos": [
95,
3
]
} | {
"id": "C0009375",
"name": "Colonic Neoplasms",
"pos": [
32,
11
]
} |
Pre-operative pain at rest (p = 0.047), anxiety level (p = 0.001) and neuropathic pain symptoms (p = 0.030) were independently and positively associated with mean post-operative pain intensity adjusted for mean post-operative morphine equivalent dose (MED). | NA | {
"id": 1298,
"name": "COL9A2",
"pos": [
252,
3
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
70,
16
]
} |
VIP and CRF reduce ADAMTS expression and function in osteoarthritis synovial fibroblasts. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
0,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
53,
14
]
} |
Furthermore, stroke was confirmed by MRI in a number of mildly symptomatic patients (11 cases) who had increased levels of total polyamine oxidase and acrolein. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
37,
3
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
13,
6
]
} |
Therefore, IQGAP2 may suppress PC tumorigenesis, at least in part, by up-regulation of E-cadherin. | NA | {
"id": 10788,
"name": "IQGAP2",
"pos": [
11,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
34,
13
]
} |
These results provide possible mechanisms for the anti-diabetic effects of NHF, via a decrease of blood glucose level, an increase of insulin sensitivity, an increase of GLUT-4 gene expression and an attenuation of hepatic PEPCK gene expression. | NA | {
"id": 5106,
"name": "PCK2",
"pos": [
223,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
134,
19
]
} |
Neutrophil accumulation at sites of inflammation is mediated by specific groups of cell adhesion molecules including the beta2 (CD18) integrins on leukocytes and the selectins (P- and E-selectin on the endothelium and L-selectin on the leukocyte). | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
121,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
36,
12
]
} |
A frameshift mutation, c.171dupC (p.E58RfsX17), was identified in two half-siblings with anophthalmia/microphthalmia, discordant developmental delay/postaxial polydactyly, and poor growth as well as their unaffected mother; one affected sibling carried an additional BMP4 mutation in the second allele, c.362A > G (p.H121R). | NA | {
"id": 652,
"name": "BMP4",
"pos": [
267,
4
]
} | {
"id": "C0220697",
"name": "POLYDACTYLY, POSTAXIAL",
"pos": [
149,
21
]
} |
The effect of interleukin 1 alpha on acetaminophen-induced hepatotoxicity. | therapeutic | {
"id": 3552,
"name": "IL1A",
"pos": [
14,
19
]
} | {
"id": "C3658290",
"name": "Drug-Induced Acute Liver Injury",
"pos": [
59,
14
]
} |
First, greater levels of IL-12/23p40, IFN-γand IL-17A were confirmed in supernatants of lipopolysaccharide (LPS)-stimulated TNFRp55-/-splenocytes obtained on arthritis onset (day 14 after Ye infection). | biomarker | {
"id": 3439,
"name": "IFNA1",
"pos": [
38,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
158,
9
]
} |
Chronic and systemic inflammation, a potential cause of body weight loss in patients with chronic obstructive pulmonary disease (COPD), may be associated with the proinflammatory properties of secretory phospholipases A2 (sPLA2s), especially the group II subfamily sPLA2s. | NA | {
"id": 26279,
"name": "PLA2G2D",
"pos": [
265,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
56,
11
]
} |
The elevated plasma level of IFN-γ was an independent risk factor for stroke (hazard ratio [HR], 4.02 [IQR, 1.06-15.34]; p=0.042) and all-cause mortality (HR, 3.93 [IQR, 1.43-10.78]; p=0.008) in patients with atrial fibrillation. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
29,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
70,
6
]
} |
DOCK4 mutations are present in a subset of human cancer cell lines; a recurrent missense mutant identified in human prostate and ovarian cancers encodes a protein that is defective in Rap1 activation. | genomic_alterations | {
"id": 27342,
"name": "RABGEF1",
"pos": [
184,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
49,
6
]
} |
= 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10(-18); OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. | NA | {
"id": 8807,
"name": "IL18RAP",
"pos": [
77,
7
]
} | {
"id": "C0023343",
"name": "Leprosy",
"pos": [
130,
7
]
} |
In contrast, the neointima formation, proliferating cell nuclear antigen-positive cells, and phospho-epidermal growth factor receptor-positive cells were markedly enhanced by wild-type ADAM17 adenovirus. | NA | {
"id": 6868,
"name": "ADAM17",
"pos": [
185,
6
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
192,
10
]
} |
To assess the impact of polymorphisms of the GST genes, GSTM1 and GSTT1, on the risk of HVOD, we evaluated 114 consecutive patients with beta-thalassemia major undergoing BMT. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
66,
5
]
} | {
"id": "C0005283",
"name": "beta Thalassemia",
"pos": [
137,
16
]
} |
To our knowledge, AGR2-targeted 18A4Hu I is a promising humanized anti-tumor drug candidate, and pHAb-FAST system is a useful optimized mammalian expression vector construction tool. | biomarker | {
"id": 10922,
"name": "FASTK",
"pos": [
102,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
71,
5
]
} |
Between May 2001 and February 2002, five patients between 4 and 12 years of age, receiving maintenance chemotherapy for ALL, presented with symptoms suggesting B19 infection (pallor, fatigue, petechiae and pancytopenia in four patients; generalized rash in two patients; acute hepatitis in one patient). | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
160,
3
]
} | {
"id": "C0030312",
"name": "Pancytopenia",
"pos": [
206,
12
]
} |
All selected studies included the following: a case group with infertility as measured by semen parameters, a control group of known or presumed fertile men, and measurement of CAG and/or GGC repeat lengths among cases and controls. | NA | {
"id": 79017,
"name": "GGCT",
"pos": [
188,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
63,
11
]
} |
Radiosensitivity by ING4-IL-24 bicistronic adenovirus-mediated gene cotransfer on human breast cancer cells. | NA | {
"id": 11009,
"name": "IL24",
"pos": [
25,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
43,
10
]
} |
Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
35,
5
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
59,
22
]
} |
Multiple linear regression analysis was performed with normalized APC-SR(APTT) or APC-SR(ETP) as dependent variable and putative determinants [levels of FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FXIII A subunit, FXIII B subunit, protein S total, protein S free, protein C, tissue factor pathway inhibitor (TFPI) total, TFPI free, antithrombin and fibrinogen] as independent variables. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
262,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
347,
10
]
} |
We examined the effect of genetic polymorphisms of phase-II enzymes, glutathione S-transferase P1 (GSTP1) and N-acetyltransferase2 (NAT2) on susceptibility to esophageal squamous-cell carcinoma To determine the genotypes of the 2 polymorphisms, PCR-based analysis was performed on samples from 66 Japanese patients who had been histologically diagnosed as having esophageal squamous-cell carcinoma, and 164 healthy Japanese controls. | NA | {
"id": 10,
"name": "NAT2",
"pos": [
132,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
363,
10
]
} |
Genetic deficiency of complement isoforms C4A or C4B predicts improved survival of metastatic renal cell carcinoma. | NA | {
"id": 720,
"name": "C4A",
"pos": [
49,
3
]
} | {
"id": "C4721698",
"name": "Metastatic Renal Cell Carcinoma",
"pos": [
83,
31
]
} |
Although it is known that ataxia-telangiectasia mutated (ATM) and interleukin 6 (IL-6) contribute to multiple drug resistance (MDR) in tumor chemotherapy, the exact role of ATM activation in MDR resulting from increased IL-6 expression is still unclear. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
220,
4
]
} | {
"id": "C0004135",
"name": "Ataxia Telangiectasia",
"pos": [
26,
21
]
} |
There was rapid onset of cardiac hypertrophy and ventricular fibrosis, detected microscopically, in male RIP140 transgenic mice from 4 weeks of age, resulting in 25% mortality by 5 months. | NA | {
"id": 8204,
"name": "NRIP1",
"pos": [
105,
6
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
25,
19
]
} |
In support of a role for hnRNPC in the invasiveness of GBM, highly aggressive U87MG cells showed higher hnRNPC expression levels and hnRNPC abundance in tissue arrays and also showed elevated levels as a function of brain tumor grade. | NA | {
"id": 3183,
"name": "HNRNPC",
"pos": [
133,
6
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
216,
11
]
} |
On the basis of the results, 21 patients with adult-onset sporadic leukodystrophy and one patient with pathologically proven HDLS were additionally screened for CSF1R mutations. | NA | {
"id": 1436,
"name": "CSF1R",
"pos": [
161,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
58,
8
]
} |
Among 3,578 patients with ALL and successful cytogenetic analysis, we identified 35 patients with the t(11;19)(q23;p13.3) translocation: 13 infants and 11 older children had B-precursor leukemia, whereas 11 patients had a T-cell phenotype. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
115,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
122,
13
]
} |
Possibly as a result of CFTR mutations, patients with CBAVD had a significantly increased risk of miscarriage and stillbirth and a reduced rate of live birth compared with patients with non-CBAVD. | NA | {
"id": 1080,
"name": "CFTR",
"pos": [
24,
4
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
98,
11
]
} |
It has become clear recently that PTEN (phosphatase and tensin homologue) is also critical for stem cell maintenance and that PTEN loss can cause the development of cancer stem cells and ultimately tumorigenesis. | NA | {
"id": 7145,
"name": "TNS1",
"pos": [
56,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
198,
13
]
} |
In this study, a promising conditionally replicating adenovirus (CRAd) driven by a tissue specific bone sialoprotein promoter in controlling prostate cancer both in vitro and in vivo is demonstrated. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
99,
17
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
53,
10
]
} |
CAD is associated with reduced vascular responses to both VEGF and HGF; this is not likely due to a reduced expression of VEGF or flt-1 or flk-1 receptors and not due to a generalized endothelium dysfunction despite the presence of mild hypercholesterolemia in these patients with CAD. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
67,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
232,
4
]
} |
Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype. | NA | {
"id": 9083,
"name": "BPY2",
"pos": [
29,
9
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
61,
9
]
} |
P-glycoprotein (PGP) polymorphisms and sexual dysfunction in female patients with depression and SSRI-associated sexual side effects. | genomic_alterations | {
"id": 283871,
"name": "PGP",
"pos": [
16,
3
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
82,
10
]
} |
All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
133,
6
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
40,
17
]
} |
KRAS codon 13 mutations, but not codon 12 mutations, were associated with a higher risk for overall extrahepatic recurrence and lung-specific recurrence.Cancer 2016.© 2016 American Cancer Society.Cancer 2016;122:2698-2707.© 2016 American Cancer Society. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
0,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
153,
6
]
} |
Our results provide the evidence that the administration of 5-LOX inhibitors is able to ameliorate TNF-α-induced cytokine/chemokine release and paw edema, indicating that 5-LOX inhibitors may be developed for therapeutic treatment of inflammatory arthritis. | NA | {
"id": 240,
"name": "ALOX5",
"pos": [
171,
5
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
148,
5
]
} |
Among infants, increased pulmonary blood flow was associated with higher S100B levels before surgery than cyanosis. | NA | {
"id": 6285,
"name": "S100B",
"pos": [
73,
5
]
} | {
"id": "C0010520",
"name": "Cyanosis",
"pos": [
106,
8
]
} |
Two proteins comprising the ZEB family of zinc finger transcription factors, ZEB1 and ZEB2, execute EMT programs in embryonic development and cancer. | biomarker | {
"id": 6935,
"name": "ZEB1",
"pos": [
77,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
142,
6
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.